Table 2 Monogenetic defects associated with or causing common variable immunodeficiency
Defect (gene, chromosome) | Frequency | Onset | Ig serum levels | Clinical symptoms |
|---|---|---|---|---|
ICOS deficiency (ICOS, 2q33) | 5 families, 11 patients | Late onset, early onset | IgG, A, M low | URI, LRI, GI, SP, LP, AI, SG |
CD19 deficiency (CD19, 16p11.2) | 6 families, 9 patients | Early onset | IgG and IgA low, IgM variable | URI, LRI, GI, SP, LP, AI, SG, GN |
BAFFR deficiency (TNFRSF13C, 22q13.1-q13.31) | 1 family, 2 patients | Late onset | IgG and IgM low, IgA normal | URI, LRI |
CD81 deficiency (CD81, 11p15.5) | 1 family, 1 patient | Early onset | IgG low, IgA and IgM normal | URI, LRI, GN |
CD20 deficiency (CD20, 11q12) | 1 family, 1 patient | Early onset | IgG low, IgA and IgM normal | URI |
CD21 deficiency (CR2, 1q32) | 1 family, 1 patient | Late onset | IgG and IgA low, IgM normal | URI, GI, SP |
TACI (TNFRSF13B, 17p11.2) | About 8 to 10% of CVID patients | Late onset, early onset | IgG and IgA low, IgM variable | URI, LRI, GI, SP, AI, LP, SG |
LRBA deficiency (LRBA, 4q31.3) | 4 families, 5 patients | Early onset (<15 years) | IgG and IgA low, IgM variable | URI, LRI, AI, GI, SG |